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Case Reports in Pediatrics

Volume 2014, Article ID 696703, 4 pages
http://dx.doi.org/10.1155/2014/696703

Case Report
A Spinal Arteriovenous Fistula in a 3-Year Old Boy

Thomas E. M. Crijnen,1 Sandra van Gijlswijk,1 Jozef De Dooy,1,2 Maurits H. J. Voormolen,3

Dominique Robert,2 Philippe G. Jorens,2 and Jose Ramet1
1
Department of Paediatrics, Antwerp University Hospital (UZA), Wilrijkstraat 10, 2650 Edegem, Belgium
2
Department of (Paediatric) Intensive Care, Antwerp University Hospital (UZA), Wilrijkstraat 10, 2650 Edegem, Belgium
3
Department of Radiology, Antwerp University Hospital (UZA), Wilrijkstraat 10, 2650 Edegem, Belgium

Correspondence should be addressed to Thomas E. M. Crijnen; thomascrijnen@hotmail.com and

Jozef De Dooy; jozef.dedooy@uza.be

Received 11 December 2013; Accepted 2 January 2014; Published 12 February 2014

Academic Editors: J. Sheth and P. Strisciuglio

Copyright 2014 Thomas E. M. Crijnen et al. This is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly
cited.

We present a case of a 3-year-old boy with neurodegeneration. Family history reveals Rendu-Osler-Weber disease. Magnetic
resonance imaging (MRI) of the spinal cord and spinal angiography showed a spinal arteriovenous fistula with venous aneurysm,
causing compression of the lumbar spinal cord. Embolisation of the fistula was executed, resulting in clinical improvement. A week
after discharge he was readmitted with neurologic regression. A second MRI scan revealed an intraspinal epidural haematoma
and increase in size of the aneurysm with several new arterial feeders leading to it. Coiling of the aneurysm and fistulas was
performed. Postoperative, the spinal oedema increased despite corticoids, causing more extensive paraplegia of the lower limbs
and a deterioration of his mental state. A laminectomy was performed and the aneurysm was surgically removed. Subsequently, the
boy recovered gradually. A new MRI scan after two months showed less oedema and a split, partly affected spinal chord. This case
shows the importance of excluding possible arteriovenous malformations in a child presenting with progressive neurodegeneration.
In particular when there is a family history for Rendu-Osler-Weber disease, scans should be performed instantly to rule out this
possibility. The case also highlights the possibility of good recovery of paraplegia in paediatric Rendu-Osler-Weber patients.

1. Introduction cord as arteriovenous fistulas (AVFs). These complications

When confronted with a paediatric patient with developmen-
tal degeneration, the most likely causes are a (congenital)
neurologic or metabolic disorder, a genetic defect or syn-
drome, exposure to a toxic agent, or an infection of the brain
or nerve system [1]. The main localisation of such disorders
must be searched for in the cranium.
With this case report we want to emphasize that an arteri-
ovenous malformation (AVM) might also be responsible for
the symptoms of regression, especially when there is a suspi-
cion of Rendu-Osler-Weber disease (ROWD), an autosomal
dominant vascular disorder with a variety of clinical mani-
festations. In this disease epistaxis, gastrointestinal bleeding,
and iron deficiency anaemia are most commonly reported,
along with characteristic mucocutaneous telangiectases [2].
In addition, AVMs might occur in the pulmonary or hepatic
circulations or cerebrally as well as in or around the spinal
demand knowledge of the risks and benefits of screening and
treatment in affected patients [3, 4].
We report on a 3-year-old boy, initially presenting with
developmental regression. A spinal AVF was diagnosed
requiring embolisation and appropriate treatment. We high-
light two unusual features: the observation that a spinal AVF
might also be responsible for symptoms of regression and the
apparently good recovery after acute paraplegia.
2. Case
A 3-year-old boy was brought into hospital because of
developmental regression. His medical history revealed little
problems, except for a bronchiolitis caused by respiratory
syncytial virus, for which he had been in hospital as a toddler.
Uptill a few months earlier his neuromotor development had
always been on schedule. Six months before admission to
2 Case Reports in Pediatrics

(a) (b) (c) (d)

Figure 1: Thoracolumbar MRI scans, midsagittal views, and T2 weighted images: (a) scan at presentation of the child shows the dilated
vascular intraspinal structures and the large aneurysm (arrow) nearly completely involving the spinal canal at the level of T12 with spinal
cord compression; (b) scan after second embolisation shows the haematoma (dark) in the lower spinal canal, a decrease in size of the dilated
intraspinal blood vessels, the occluded large aneurysm and the spinal cord oedema/hyperintense lesions of the lower spinal cord; (c) scan
after surgery shows the resected aneurysm, with a very thin and split spinal cord at level T12, residual intraspinal haematoma, some dilated
thrombosed intraspinal vessels, and spinal cord oedema/hyperintense lesions of the lower spinal cord; (d) scan two months after treatments
shows a resolving of the haematoma, unchanged thrombosed intraspinal vessels, and a decrease in oedema/hyperintensity of the lower spinal
cord.

(a) (b)

Figure 2: Angiographic imaging: (a) spinal angiogram, arterial phase, anteroposterior view, shows the arteriovenous fistula and the giant
aneurysm at the level of T12/L1; (b) X-ray, AP view, same level, shows the coils and Onyx cast after endovascular occlusion.

our hospital he was hospitalized in a different clinic with
convulsions, thought to be caused by a viral infection with
enterovirus. Afterwards he progressively developed constipa-
tion, limping, and an inability to play in his normal manner.
The boy is the firstborn son of two nonconsanguineous
parents of Afro-Caribbean origin. The mother and maternal
grandmother of the boy are known to have ROWD. A mater-
nal uncle was diagnosed with systemic lupus erythematosus.
During the diagnostic workup in a neighbouring general
hospital an MRI scan of the spinal cord was performed
(Figure 1(a)). It showed a spinal vascular malformation with
a large aneurysm at the level of the lower thoracic spinal
cord, causing massive compression of the lumbar spinal cord.
The boy was transferred to our university hospital for further
diagnosis. Spinal angiography (under general anaesthesia)
identified the vascular malformation as a spinal arteriovenous
fistula with an associated large venous aneurysm at the level of
the fistula. The dilated arterial feeder as recognized from MRI
originated from the intercostal artery at T9. It was thought to
be a single fistula. Due to the low weight of the boy, only a lim-
ited amount of contrast could be administered and more dis-
tal thoracic levels were not checked. An embolisation of this
AVF at T9 was carried out, using a coil and a liquid embolic
agent (Figure 2). The idea was that the aneurysm would
gradually shrink in time, whereas initial aneurysm occlusion
would result in an oedematous reaction with increase in
Case Reports in Pediatrics
spinal cord compression. Postoperative high-dose dexam-
ethasone was given to prevent oedema of the spinal cord.
The boy recovered well with spontaneous movements of the
lower limbs and preservation of sensibility. Because of his
symptoms and the family history, genetic testing was started
up to try and confirm the diagnosis of ROWD in the boy.
A week after discharge he was readmitted with severe pain
in his back, stiffness of the neck, and an inability to walk. A
complication of the embolisation was suspected. A second
MRI scan revealed an intraspinal epidural haematomata
expanding caudally from level L1, at the site of the known
venous aneurysm that had also increased in size (Figure 1(b)).
A new spinal angiography, because of the acute state now
covering more thoracolumbar levels, demonstrated several
other arterial feeders of the AVF. During the same session,
coiling of the aneurysm and the fistulas was performed. After-
wards the paraplegia of the lower limbs was more significant
and the mental state of the boy deteriorated. Again, corticos-
teroids were administered to reduce oedema. However, a new
MRI scan showed increased oedema of the spinal medulla
(Figure 1(c)). A surgical laminectomy was performed, the
haematoma was drained, and the coiled aneurysm was
removed to release the spinal compression. Due to the long-
standing compression the spinal cord was split and very thin
at the level of the aneurysm.
After the operation the boy recovered remarkably well.
He stayed in our hospital for a month. During that period of
time his mental state completely normalised and he was able
to start walking again. He did however develop a hypertonic
bladder, for which he has to be catheterised. An MRI scan
performed two months later showed decrease of oedema of
the spinal medulla (Figure 1(d)). Genetic testing did confirm
the diagnosis of ROWD. Further rehabilitation is tended to at
home by a paediatric physiotherapist.
3. Discussion
Rendu-Osler-Weber disease is an autosomal dominant hered-
itary condition, caused by a mutation in the gene encoding
endoglin (ENG), a transforming growth factor-beta binding
protein that has an angiogenic function, on chromosome
9q34.11 [57]. The disease is also known by the name hered-
itary haemorrhagic telangiectasia (HTT) type 1. The inci-
dence of HTT is estimated to be 1/5000 to 8000 newborns [8].
Patients display a vascular dysplasia, as a result of which they
develop haemorrhagic telangiectases and AVMs of mucosa,
viscera, and skin. Complications of mucosal dysplasia are
epistaxis and gastrointestinal tract bleedings [9]. The Curacao
criteria have been defined to improve clinical diagnosis
and management [2]. HHT is to be considered if some of
the following criteria are present: (1) spontaneous recurrent
epistaxis; (2) multiple telangiectases at characteristic sites
(nose, lips, oral cavity, and fingers); (3) family history (a
first-degree relative with HHT); and (4) visceral lesions (gas-
trointestinal telangiectases with or without bleeding, or pul-
monary, hepatic, cerebral or spinal AVMs). If three or more
criteria are present the diagnosis is definite. A patient with
two criteria is considered a possible case. Otherwise HHT is
unlikely. Our patient presented two criteria and was therefore
3
a likely patient. Genetic testing, however, could confirm our
suspicion.
The mean age of onset for the epistaxis in ROWD is 12
years. By the age of 21, over 90% of all mutation carriers have
developed epistaxis [10]. Bleeding may be excessive and can
occur regularly. Cauterization and sometimes even surgery
are needed in such cases [9]. The mucosa of the tongue, oral
cavity, and lips and the fingers are also frequently affected,
showing distinct telangiectasic lesions. In 74% of cases telang-
iectases are documented, half of them being younger than 30
years of age [3]. Intestinal bleeding usually is mild and no
invasive treatment is needed. In case of anaemia a patient can
be started on iron supplementation. If severe bleeding tends
to be present, endoscopic argon plasma coagulation or arte-
rial embolisation can be performed to stop the haemorrhage
[11]. Skin lesions in the form of telangiectases occur mainly in
the face and on the fingers, with a frequency of about 33% and
41%, respectively. Normally, no treatment is needed. In case
of disfiguring lesions in the face treatment with laser may be
effective [3].
Patients can develop AVMs in several visceral organs,
most commonly in lungs, liver, and brain [3, 4]. AVFs in the
spinal cord are very rare (<1%), but children more frequently
present with an AVF in the spinal cord as a first sign of the
disease [12]. Coiling of AVFs is often necessary to prevent
complications of haemorrhage or compression of other struc-
tures. In our case, the AVF primarily caused compression of
the spinal medulla, which led to the developmental regres-
sion. Haematoma and oedema, arising after the treatment,
led to secondary neurological deficit. The consequences of
these symptoms are severe and should be treated immedi-
ately. Compression of the spinal cord might cause irreversible
damage if it exists for a long period of time.
4. Conclusion
The possibility of a spinal AVF in children presenting with
progressive developmental regression should be considered.
Especially in case of a family history for Rendu-Osler-Weber
disease, scans should be performed instantly to rule out this
possibility. Invasive treatment must be performed as soon as
possible to minimise damage to the spinal cord. Close obser-
vation and follow-up afterwards are crucial in the prevention
of secondary injury.
Disclosure
Please note that, since there are no identifying features of the
case, consent for imaging and publication was not sought, and
this complies with the ethical standards of the local institu-
tional research ethics board.
Conflict of Interests
The authors declare that there is no conflict of interests
regarding the publication of this paper.
4 Case Reports in Pediatrics

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